Genetic variability in CHMP2B and frontotemporal dementia

Parastoo Momeni, Ekaterina Rogaeva, Vivianna Van Deerlin, Wuxing Yuan, Jordan Grafman, Michael Tierney, Edward Huey, Jason Bell, Chris M. Morris, Rajesh N. Kalaria, Susan J. Van Rensburg, Dana Niehaus, Felix Potocnik, Toshitaka Kawarai, Shabnam Salehi-Rad, Christine Sato, Peter St. George-Hyslop, John Hardy*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

42 Scopus citations

Abstract

A nonsense/protein chain-terminating mutation in the CHMP2B gene has recently been reported as a cause of frontotemporal dementia (FTD) in the single large family known to show linkage to chromosome 3. Screening for mutations in this gene in a large series of FTD families and individual patients led to the identification of a protein-truncating mutation in 2 unaffected members of an Afrikaner family with FTD, but not in their affected relatives. The putative pathogenicity of CHMP2B mutations for dementia is discussed.

Original languageEnglish (US)
Pages (from-to)129-133
Number of pages5
JournalNeurodegenerative Diseases
Volume3
Issue number3
DOIs
StatePublished - Sep 2006

Keywords

  • CHMP2B
  • Chromosome 3
  • Frontotemporal dementia
  • MAPT

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Fingerprint Dive into the research topics of 'Genetic variability in CHMP2B and frontotemporal dementia'. Together they form a unique fingerprint.

Cite this